Gene mutations linked to childhood brain tumors

Nature Genetics

April 7, 2014

Genetic mutations that are linked to deadly brain tumors in children are reported in four independent papers published online this week in Nature Genetics. The findings may help scientists understand what causes certain types of childhood brain cancers.

Brain tumors are the leading cause of cancer-related deaths in children. Cynthia Hawkins and colleagues found ACVR1 gene mutations in 20 percent of diffuse intrinsic pontine gliomas (DIPG)-a type of childhood brain tumor-samples. In separate studies, Suzanne Baker and colleagues found ACVR1 mutations in 33 percent of their DIPG samples, while Chris Jones and colleagues found these mutations in 21 percent of a different set of samples. There are currently no effective treatments for DIPG. None of these mutations had previously been found in cancer, though they are linked to an inherited muscular disease known as fibrodysplasia ossificans progressdiva. A fourth study, by Nada Jabado and colleagues, found ACVR1 mutations in another type of childhood brain tumor, high-grade astrocytomas. About 13 percent of samples carried the mutations.